Xq12-q13.3 duplication syndrome
ORPHA: 314389
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Xq12-q13.3 duplication syndrome, sourced from HPO and Orphanet clinical annotations.
CryptorchidismMicrocephalyEpicanthusHypertelorismTriangular faceOptic disc pallorAbnormality of visual evoked potentialsAtypical behaviorAgitationAutistic behaviorDelayed speech and language developmentGlobal developmental delayPectus excavatumCutaneous finger syndactylyIntellectual disabilityHypotoniaEczematoid dermatitisShort statureHypoplasia of the corpus callosumVentriculomegalyGeneralized myoclonic seizureHypsarrhythmiaEverted lower lip vermilionRecurrent upper respiratory tract infectionsElevated circulating creatine kinase concentrationDecreased circulating alkaline phosphatase activityGeneralized amyotrophy2-3 toe syndactylyDepressed nasal bridgeNumerous neviImpaired pain sensationAnterior creases of earlobeCleft earlobeModerate global developmental delayAbnormal basal ganglia MRI signal intensityDecreased circulating serum insulin-like growth factor 1 concentrationBulimia
Classification & Codes
Orphanet Code
ORPHA:314389Xq12-q13.3 duplication syndrome
| Orphanet | ORPHA:314389 |
| Treatments | 0 drug(s) |
| Symptoms on record | 37 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO